Inherited epidermolysis bullosa

General Information (adopted from Orphanet):

Synonyms, Signs: Hereditary epidermolysis bullosa
Epidermolysis bullosa hereditaria
Number of Symptoms 13
OrphanetNr: 79361
OMIM Id:
ICD-10: Q81
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.8 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Epidermal disease
 -Rare skin disease
Genetic epidermal disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011830) Abnormality of oral mucosa Very frequent [Orphanet] 47 / 7739
2
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
3
 (HPO:0000987) Atypical scarring of skin Occasional [Orphanet] 58 / 7739
4
 (HPO:0001072) Thickened skin Occasional [Orphanet] 87 / 7739
5
 (HPO:0001025) Urticaria Occasional [Orphanet] 73 / 7739
6
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
7
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
8
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
9
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
10
 (HPO:0000989) Pruritus Occasional [Orphanet] 111 / 7739
11
 (HPO:0001595) Abnormality of the hair Frequent [Orphanet] 89 / 7739
12
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
13
 (HPO:0030350) Erythematous papule Frequent [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: